Pediatrics

UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. Our work contributes towards the following SDG(s):

  • SDG 2 - Zero Hunger
  • SDG 3 - Good Health and Well-being
  • SDG 4 - Quality Education
  • SDG 5 - Gender Equality
  • SDG 11 - Sustainable Cities and Communities
  • SDG 13 - Climate Action
  • SDG 16 - Peace, Justice and Strong Institutions

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  • Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity

    den Hoed, J., Semmekrot, F., Verseput, J., Dingemans, A. J. M., Schijven, D., Francks, C., Zarate, Y. A. & Fisher, S. E., Jan 15 2026, In: Human Genetics and Genomics Advances. 7, 1, 100537.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • A call to action by the American Academy of Pediatrics Trainees and early career neonatologists’ national advocacy campaign “Carousel care”: best practice guidelines for NICU family mental health standard of care

    Hoge, M. K., Blake, A. & Slone, A., Mar 2025, In: Journal of Perinatology. 45, 3, p. 411-412 2 p., 206.

    Research output: Contribution to journal › Article › peer-review

    1 Scopus citations

  • A clinical and genotype-phenotype analysis of MACF1 variants

    Dekker, J., Schot, R., Aldinger, K. A., Everman, D. B., Washington, C., Jones, J. R., Sullivan, J. A., Spillmann, R. C., Shashi, V., Vitobello, A., Denommé-Pichon, A. S., Mosca-Boidron, A. L., Perrin, L., Auvin, S., Zaki, M. S., Gleeson, J. G., Meave, N., Wallace, C., Nambot, S. & Delanne, J. & 70 others, Ruggiero, S. M., Helbig, I., Fitzgerald, M. P., Leventer, R. J., Grange, D. K., Argilli, E., Sherr, E. H., Prakash, S., Neilson, D. E., Nicita, F., Sferra, A., Bertini, E. S., Aiello, C., Brockmann, K., Kuranov, A. B., Kaulfuss, S., Basit, S., Alluqmani, M., Almatrafi, A., Friedman, J. M., Guimond, C., Mohammed, F., Sharma, P., Goel, D., Wirth, T., Anheim, M., Bahena, P., Koparir, A., Kolokotronis, K., Vona, B., Haaf, T., Kunstmann, E., Maroofian, R., Sczakiel, H. L., Boschann, F., Misra-Isrie, M., Louie, R. J., Stolerman, E. S., Sanchez-Lara, P. A., Mergler, S., Oegema, R., Zarate, Y. A., Kariminejad, A., Tajsharghi, H., Zeidler, S., Kievit, A. J. A., Bouman, A., Cappuccio, G., Brunetti-Pierri, N., Stuurman, K. E., Swols, D. M., Tekin, M., Upadia, J., Martin, D. M., Craven, D., Hiatt, S. M., van de Pol, L. A., D'Arco, F., Margot, H., Wilke, M., Yousefi, S., Barakat, T. S., van Veghel-Plandsoen, M. M., Aronica, E., Anink, J., Rogers, S. L., Slep, K. C., Doherty, D., Dobyns, W. B. & Mancini, G. M. S., Oct 2 2025, In: American Journal of Human Genetics. 112, 10, p. 2363-2380 18 p.

    Research output: Contribution to journal › Article › peer-review

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